Incidental Mutation 'IGL01639:Spire1'
| ID |
92926 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spire1
|
| Ensembl Gene |
ENSMUSG00000024533 |
| Gene Name |
spire type actin nucleation factor 1 |
| Synonyms |
6030430B19Rik, Spir-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
IGL01639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67621279-67743860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67678738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 68
(A68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045105]
[ENSMUST00000082243]
[ENSMUST00000115050]
[ENSMUST00000224799]
|
| AlphaFold |
Q52KF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045105
AA Change: A68S
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: A68S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIND
|
1 |
78 |
3.3e-27 |
PFAM |
|
PDB:4EFH|B
|
176 |
232 |
9e-6 |
PDB |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
445 |
518 |
1e-7 |
SMART |
|
low complexity region
|
596 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082243
AA Change: A68S
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: A68S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KIND
|
1 |
73 |
2e-26 |
BLAST |
|
PDB:3RBW|D
|
1 |
79 |
3e-28 |
PDB |
|
PDB:4EFH|B
|
176 |
232 |
9e-6 |
PDB |
|
low complexity region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
400 |
473 |
2e-7 |
SMART |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115050
AA Change: A68S
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: A68S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4EFH|B
|
106 |
162 |
9e-6 |
PDB |
|
low complexity region
|
219 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
SCOP:d1zbdb_
|
317 |
390 |
4e-7 |
SMART |
|
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224799
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm4 |
T |
A |
13: 3,888,302 (GRCm39) |
V136E |
probably damaging |
Het |
| Cnot8 |
A |
T |
11: 58,002,188 (GRCm39) |
I74F |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,124,527 (GRCm39) |
V213D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,204 (GRCm39) |
T565A |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,770,825 (GRCm39) |
I155V |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,320 (GRCm39) |
N42S |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,159,976 (GRCm39) |
E381D |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,099 (GRCm39) |
I183V |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,914 (GRCm39) |
S109P |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,155,460 (GRCm39) |
I261T |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,997,094 (GRCm39) |
|
probably null |
Het |
| Plekhg1 |
A |
G |
10: 3,906,751 (GRCm39) |
E556G |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,173,185 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,592,002 (GRCm39) |
R133* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,903 (GRCm39) |
S482P |
probably damaging |
Het |
| Tmc1 |
G |
A |
19: 20,793,556 (GRCm39) |
T535M |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,561,165 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,033,173 (GRCm39) |
V1711G |
possibly damaging |
Het |
| Ubr4 |
G |
T |
4: 139,144,655 (GRCm39) |
R1488L |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,225,141 (GRCm39) |
Y456* |
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,959,572 (GRCm39) |
S794G |
possibly damaging |
Het |
| Zeb2 |
C |
T |
2: 44,887,269 (GRCm39) |
S581N |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,809,048 (GRCm39) |
P1332L |
probably benign |
Het |
| Zfp641 |
A |
G |
15: 98,189,066 (GRCm39) |
I131T |
possibly damaging |
Het |
|
| Other mutations in Spire1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Spire1
|
APN |
18 |
67,662,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02334:Spire1
|
APN |
18 |
67,639,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4677001:Spire1
|
UTSW |
18 |
67,624,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Spire1
|
UTSW |
18 |
67,685,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Spire1
|
UTSW |
18 |
67,624,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Spire1
|
UTSW |
18 |
67,661,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2098:Spire1
|
UTSW |
18 |
67,636,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2299:Spire1
|
UTSW |
18 |
67,663,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3028:Spire1
|
UTSW |
18 |
67,624,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Spire1
|
UTSW |
18 |
67,639,733 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4049:Spire1
|
UTSW |
18 |
67,662,101 (GRCm39) |
splice site |
probably null |
|
|
R4050:Spire1
|
UTSW |
18 |
67,662,101 (GRCm39) |
splice site |
probably null |
|
|
R4059:Spire1
|
UTSW |
18 |
67,678,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4109:Spire1
|
UTSW |
18 |
67,630,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Spire1
|
UTSW |
18 |
67,645,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4941:Spire1
|
UTSW |
18 |
67,652,384 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4995:Spire1
|
UTSW |
18 |
67,685,849 (GRCm39) |
splice site |
probably null |
|
|
R5363:Spire1
|
UTSW |
18 |
67,639,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Spire1
|
UTSW |
18 |
67,639,716 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5795:Spire1
|
UTSW |
18 |
67,628,265 (GRCm39) |
missense |
probably benign |
|
|
R5952:Spire1
|
UTSW |
18 |
67,639,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5982:Spire1
|
UTSW |
18 |
67,630,386 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7388:Spire1
|
UTSW |
18 |
67,652,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Spire1
|
UTSW |
18 |
67,634,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8006:Spire1
|
UTSW |
18 |
67,634,251 (GRCm39) |
nonsense |
probably null |
|
|
R8111:Spire1
|
UTSW |
18 |
67,652,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8675:Spire1
|
UTSW |
18 |
67,624,378 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8946:Spire1
|
UTSW |
18 |
67,629,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Spire1
|
UTSW |
18 |
67,652,462 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9706:Spire1
|
UTSW |
18 |
67,636,508 (GRCm39) |
missense |
probably benign |
0.39 |
|
T0970:Spire1
|
UTSW |
18 |
67,634,133 (GRCm39) |
splice site |
probably null |
|
|
Z1088:Spire1
|
UTSW |
18 |
67,628,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2013-12-09 |
Incidental Mutation